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Editorial
Prevention of Birth Defects: A Priority
SM Journal of
Pediatric Surgery for Nations
Hemonta Kr. Dutta1*
Department of Pediatric Surgery, Assam Medical College & Hospital, Assam, India
1
Editorial
Article Information
Under the aegis of the United Nation’s Millennium Development Goal 4 (MDG 4), the global
under five childhood mortality rate (U5MR) has declined from 12.7 million in 1990 to 6.3 million
in 2013. But despite these gains, the Infant Mortality Rate (IMR) in 2013 was 4.6 million (74% of
U5MR) [1]. One of the leading causes of this high mortality and morbidity are Birth Defects (BD)
or Congenital Malformations (CM).
Received date: Apr 25, 2016
Accepted date: Apr 26, 2016
Published date: Apr 27, 2016
*Corresponding author
Hemonta Kr. Dutta, Department of
Pediatric Surgery, Assam Medical
College & Hospital, Assam, India, Email:
[email protected]
Distributed under Creative Commons
CC-BY 4.0
Birth defects are abnormalities affecting body structure or function that are present from birth.
Some of these defects are major and life-threatening, but majority are minor defects affecting bodily
function in various ways. They can occur in any family and can have devastating effect on the
parents and the family. An estimated 8 million babies (6% of worldwide births) are born with BD
each year and along with preterm births they account for over 4 million deaths annually. An analysis
of the data from the World Health statistics 2015 reveals that as the number of under 5 deaths due
to malaria, diarrhoea and measles have declined between 2000 and 2013, U5MR due to CM has
witnessed a gradual increase [2].
The proportion of births with birth defects as well as the absolute number of births are much
higher in the third world countries than in high-income countries because of sharp differences in
maternal health and other significant risk factors, including poverty, a high percentage of older
mothers, a greater frequency of consanguineous marriages and the survival advantage against
malaria for carriers of sickle cell, thalassemia, and glucose-6-phosphate dehydrogenase (G6PD)
deficiency genes. Several studies have attributed consanguinity as an independent risk factor of
BD, independent of ethnic origin [3-4]. The studies also highlighted the fact that the risk of birth
defects was higher in population with high frequency of consanguineous marriages. For instance,
the reported incidence of consanguineous marriages in India varies from 1.4% in the state of Assam
to 30.8% in Pondicherry and 26.4% in Maharashtra [5-7].
Exact cause of many of the BD is not known. Some genetic and environmental factors, either
alone or in combination may be responsible. The five most common birth defects of genetic and
partially genetic origin are: congenital heart disease, neural tube defects, hemoglobin disorders such
as Thalassemia and Sickle cell disease, Down’s syndrome and Glucose 6-phosphate dehydrogenase
deficiency. These defects account for about 25% of more than 7000 birth defects of genetic and
partial genetic origin. Non-genetic or post-conception birth defects are more common in low and
middle income countries, where teratogenic environmental factors play a significant role. Dietary
factors, life-style choices, environmental pollutants, poor living conditions, use of non-prescription
medications before and during pregnancy etc are some of such factors.
Early diagnosis, appropriate care and intervention and proper preventive strategies in early
pregnancy go a long way in bringing down the death and disability rates among these children.
It is now known that 70% of birth defects can either be prevented, or that affected children can be
offered care that could be life saving or would reduce the severity of disability. Preventive strategies
include taking multivitamin tablets with folic acid daily by the mother since peri-conceptual period,
maintaining a healthy weight, having regular checkups, learning about family history and genetic
risk, managing maternal medical conditions like diabetes and minimizing unnecessary medication
exposure during pregnancy.
The World Health Assembly report, 2010 describes the basic components for creating a
national programme for the prevention and care of birth defects before and after birth [8]. It also
recommends priorities for the international community to assist in establishing and strengthening
of these national programmers. WHO, in collaboration with few other international agencies have
developed normative tools, including guidelines and a global plan of action, to strengthen medical
care and rehabilitation services to support the implementation of the Convention on the Rights of
Persons with Disabilities. WHO also supports countries to integrate medical care and rehabilitation
services into overall primary health care and development of community-based rehabilitation
programmers. It is time the healthcare policy makers formulate effective programmes and strategy
for prevention of BDs so as to root out this evil from our society.
OPEN ACCESS
How to cite this article Dutta HK. Prevention of Birth Defects: A Priority for Nations. SM J Pediatr Surg. 2016; 2(2): 1015.
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References
1. UNIGME. Levels & Trends in Child Mortality Report 2014. UNICEF
Headquarters. 2014.
2. WHO. World Health Statistics 2015. Luxembourg. 2015.
3. Tracy L. McGregor, Amit Misri, Jackie Bartlett, Guilherme Orabona, Richard
D, et al. Consanguinity mapping of congenital heart disease in a South Indian
population. PloS one 2010; 5: e10286.
4. Cornel MC, Houwink EJ, Houwink PE. Information should be given on
consanguinity as a risk factor for congenital malformations. Nederlands
tijdschrift voor geneeskunde 2014; 158: A7126.
Copyright  Dutta HK
5. Dutta HK, Bhattacharyya NC, Sarma JN, Giriraj K. Congenital malformations
in Assam. Journal of Indian Association of Pediatric Surgeons 2010; 15: 5355.
6. Verma I, Prema A, Puri R. Health effects of consanguinity in Pondicherry.
Indian J Ped. 1992; 29: 685-692.
7. Malhotra K. Inbreeding among Dhangar castes of Maharashtra, India. Journal
of biosocial science. 1979; 11: 397-409.
8. Blencowe H, Cousens S, Chou D, Oestergaard M, Say L, Moller AB, et
al. Born too soon: the global epidemiology of 15 million preterm births.
Reproductive health. 2013; 10: S2.
Citation: Dutta HK. Prevention of Birth Defects: A Priority for Nations. SM J Pediatr Surg. 2016; 2(2): 1015.
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